Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

An investigation of vascular anomalies centers' transition of care practices.

This study aims to examine transition of care (TOC) practices of multidisciplinary vascular anomalies centers (VACs). Thirty-seven of 71 VAC leaders to whom the survey was sent completed the questionnaire. TOC and transfer practices varied with only 16% of VACs having TOC programs. The most frequently cited barriers to developing a TOC program were lack of resources and difficulty finding expert adult providers.

Characterization of wound microbes in epidermolysis bullosa: A focus on Pseudomonas aeruginosa.

The most common bacteria isolated from wound cultures in patients recorded in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EBCCOD) are Staphylococcus aureus and Pseudomonas aeruginosa. Given the prevalence of P. aeruginosa in this patient population and prior research implicating P. aeruginosa's potential role in carcinogenesis, we sought to further analyze patients with recorded wound cultures positive for Pseudomonas aeruginosa in the EBCCOD. We provide a descriptive analysis of this subset of patients and highlight potential avenues for future longitudinal studies that may have significant implications in our wound care management for patients with epidermolysis bullosa.

An overview of interventional radiology techniques for the diagnosis and management of vascular anomalies: Part 2.

Minimally invasive percutaneous and endovascular strategies performed by interventional radiologists have become the mainstays of treatment for vascular anomalies with improved outcomes, decreased complication rates, and less morbidity. The aim of this article is to introduce physicians who care for patients with vascular anomalies to state-of-the-art advancements in interventional radiology for diagnosis and treatment. Part 2 of this review discusses embolization, endovenous laser ablation, and image-guided percutaneous biopsy. Please see Part 1 for a discussion of sclerotherapy and cryoablation. Select vascular anomalies will be discussed as examples to highlight IR diagnostic and/or treatment techniques.

An overview of interventional radiology techniques for the diagnosis and management of vascular anomalies: Part 1.

Minimally invasive percutaneous and endovascular strategies performed by interventional radiologists have become the mainstays of treatment for vascular anomalies, with improved outcomes, decreased complication rates, and reduced morbidity. The aim of this article is to introduce physicians who care for patients with vascular anomalies to state-of-the-art advancements in interventional radiology (IR) for diagnosis and treatment. Part 1 of this review will focus on sclerotherapy and cryoablation. Part 2 will discuss embolization, endovenous laser ablation, and image-guided percutaneous biopsy. Select vascular anomalies will be discussed as examples to highlight IR diagnostic and/or treatment techniques.

Hybrid lung lesions in children with segmental infantile hemangiomas, a new association?

Infantile hemangiomas (IHs) are the most common tumors of infancy and, in rare instances, can present in the setting of congenital structural anomalies or as part of syndromic disorders. In this study, we present three cases of children with segmental IHs born with concurrent pulmonary anomalies: congenital pulmonary airway malformations and bronchopulmonary sequestration. To date, no known association between these entities and hemangiomas has been described.

State medicaid coverage of over-the-counter moisturizers: A cost-effective management strategy for atopic dermatitis?

Regular moisturizing with over-the-counter (OTC) treatments is considered a cornerstone of atopic dermatitis (AD) management regardless of disease severity, but OTC moisturizers are not an eligible product under most state Medicaid benefits, including those of New York (NY). Removing the financial barrier to AD management may lessen both the economic burden and emotional toll of the disease for patients and their families with the added benefit of decreasing healthcare costs. Herein, the theoretical annual cost of OTC moisturizer was calculated for a patient with AD in NY to range between $35.13 to $63.35 for infants to $175.66 to $316.75 for adults, and Medicaid reimbursement rates and reported direct and indirect costs of AD were reviewed. We conclude with a discussion of Medicaid coverage criteria for drugs, cost-effectiveness and preventative medicine, and the role of advocacy for changes in health policy.

Photodermatoses: what's new.

PURPOSE OF REVIEW: The purpose of this review is to summarize and highlight the recent literature in photodermatoses. In the past year, there have been many developments in this heterogeneous group of conditions. RECENT FINDINGS: This review is divided by photodermatoses type, which include idiopathic photodermatoses, photodermatoses secondary to exogenous agents, photodermatoses secondary to endogenous agents (the porphyrias), and genodermatoses. The idiopathic photodermatoses section focuses on case series and reports highlighting new disease presentations or further disease characterization and new treatment strategies for these disorders. The second section discusses a unique case and has a brief update on photoallergens. Clinical, diagnostic, and treatment updates for porphyrias are discussed in Section 3. For genodermatoses, we discuss complications and neoplastic risk of xeroderma pigmentosum and a few highlights from other rare disorders. Finally, we conclude with a brief overview of photoprotection updates, from assessing sun-damaged skin to the most effective photoprotective agents. SUMMARY: Up-to-date information will help providers identify and manage this rare group of disorders.

Novel CD63-PRKCB fusion in a case of pigmented epithelioid melanocytoma.

Pigmented epithelioid melanocytoma (PEM) is an intermediate-grade melanocytic tumor with considerable histologic overlap with other melanocytic neoplasms such as epithelioid blue nevus (EBN), which is associated with the neoplastic syndrome Carney complex (CC). Next-generation sequencing is a valuable tool for identifying the primary drivers of melanocytic neoplasms and differentiating them from one another. While germline variants in the protein kinase cAMP-dependent regulatory type 1 alpha (PRKAR1A) gene have been associated with EBN and CC, fusions in protein kinase C-alpha (PRKCA) have been shown as sporadic drivers of PEM. Herein, we report the diagnosis and workup of a case of pigmented epithelioid melanocytoma with a novel protein kinase C-beta (PRKCB) fusion.